| HOME | HELP | FEEDBACK | SUBSCRIPTIONS | ARCHIVE | SEARCH | TABLE OF CONTENTS | REGISTER |
|
|
|
|
|||||||||||||
|
|
|||||||||||||||
a Department of
Medical Genetics, University of Antwerp, Universiteitsplein 1, 2610 Antwerp, Belgium, b ENT Department, University of Nijmegen, The
Netherlands, c Mental Health Research Institute, University of
Michigan Health System, USA, d ENT
Department, University of Antwerp, Belgium, e Department of Otolaryngology, University of Iowa
Hospitals and Clinics, USA, f Division of Pediatric Otolaryngology, Department
of Otolaryngology-Head and Neck Surgery, University of Michigan Health
System, USA
Correspondence to: Dr Van Camp.
Received 2
April 1998;
Revised version accepted for publication 1 March 1999
Non-syndromic hearing impairment is one of the most
heterogeneous hereditary conditions, with more than 40 reported gene
localisations. We have identified a large Dutch family with autosomal
dominant non-syndromic sensorineural hearing impairment. In most
patients, the onset of hearing impairment is in the first or second
decade of life, with a slow decline in the following decades, which
stops short of profound deafness. The hearing loss is bilateral,
symmetrical, and only affects low and mid frequencies up to 2000 Hz. In
view of the phenotypic similarities of this family with an American family that has been linked to chromosome 4p16.3 (DFNA6), we
investigated linkage to the DFNA6 region. Lod score calculations
confirmed linkage to this region with two point lod scores above 6. However, as haplotype analysis indicated that the genetic defect in
this family is located in a 5.6 cM candidate region that does not
overlap the DFNA6 region, the new locus has been named DFNA14.
This article has been cited by other articles:
|
|
 |
|
  H Eiberg, L Hansen, B Kjer, T Hansen, O Pedersen, M Bille, T Rosenberg, and L Tranebjaerg Autosomal dominant optic atrophy associated with hearing impairment and impaired glucose regulation caused by a missense mutation in the WFS1 gene. J. Med. Genet., May 1, 2006; 43(5): 435 - 440. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
V A Street, J C Kallman, and K L Kiemele Modifier controls severity of a novel dominant low-frequency MyosinVIIA (MYO7A) auditory mutation J. Med. Genet., May 1, 2004; 41(5): e62 - e62. [Full Text] [PDF]
|
|
|
|
 |
|
 R. J. E. Pennings, S. J. H. Bom, K. Cryns, K. Flothmann, P. L. M. Huygen, H. Kremer, G. Van Camp, and C. W. R. J. Cremers Progression of Low-Frequency Sensorineural Hearing Loss (DFNA6/14-WFS1) Arch Otolaryngol Head Neck Surg, April 1, 2003; 129(4): 421 - 426. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
R Varga, P M Kelley, B J Keats, A Starr, S M Leal, E Cohn, and W J Kimberling Non-syndromic recessive auditory neuropathy is the result of mutations in the otoferlin (OTOF) gene J. Med. Genet., January 1, 2003; 40(1): 45 - 50. [Full Text] [PDF]
|
|
|
|
 |
|
 I. N. Bespalova, G. Van Camp, S. J.H. Bom, D. J. Brown, K. Cryns, A. T. DeWan, A. E. Erson, K. Flothmann, H. P.M. Kunst, P. Kurnool, et al. Mutations in the Wolfram syndrome 1 gene (WFS1) are a common cause of low frequency sensorineural hearing loss Hum. Mol. Genet., October 1, 2001; 10(22): 2501 - 2508. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
T.-L. Young, E. Ives, E. Lynch, R. Person, S. Snook, L. MacLaren, T. Cator, A. Griffin, B. Fernandez, M. K. Lee, et al. Non-syndromic progressive hearing loss DFNA38 is caused by heterozygous missense mutation in the Wolfram syndrome gene WFS1 Hum. Mol. Genet., October 1, 2001; 10(22): 2509 - 2514. [Abstract] [Full Text] [PDF]
|
|
| HOME | HELP | FEEDBACK | SUBSCRIPTIONS | ARCHIVE | SEARCH | TABLE OF CONTENTS | REGISTER |
